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dbVar

Database of genomic structural variation

nsv6723588

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:157

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 107 SVs from 22 studies. See in: genome view

Submitted genomic141,062,836-141,062,992

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6723588	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	141,062,836	141,062,992
nsv6723588	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	140,781,678	140,781,834

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18473852	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18473852	Submitted genomic		NC_000003.12:g.141 062836_141062992de l	GRCh38 (hg38)		NC_000003.12	Chr3	141,062,836	141,062,992
nssv18473852	Remapped	Perfect	NC_000003.11:g.140 781678_140781834de l	GRCh37.p13	First Pass	NC_000003.11	Chr3	140,781,678	140,781,834

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18473852	0.012	2851	251636

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